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AVSD
MCID: ATR001
MIFTS: 56

Atrioventricular Septal Defect (AVSD)

Categories: Cardiovascular diseases, Genetic diseases, Muscle diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Atrioventricular Septal Defect

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MalaCards integrated aliases for Atrioventricular Septal Defect:

Name: Atrioventricular Septal Defect 58 12 77 54 38 30 56 6 15
Atrioventricular Canal Defect 58 12 6
Atrioventricular Septal Defect, Susceptibility to, 1 58 13
Endocardial Cushion Defect 58 12
Avsd 58 12
Avcd 58 12
Ecd 58 12
Atrioventricular Canal Defect; Avcd 58
Atrioventricular Septal Defect 1 58
Endocardial Cushion Defect; Ecd 58
Septal Defect, Atrioventricular 41
Endocardial Cushion Defects 45
Avc Defect 58

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Cardiovascular diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 34


External Ids:

Disease Ontology 12 DOID:0050651
OMIM 58 606215
KEGG 38 H00547
ICD9CM 36 745.6 745.60
MeSH 45 D004694
SNOMED-CT 69 15459006
ICD10 34 Q21.2
MedGen 43 C1389016
UMLS 74 C0014116
Sources

Summaries for Atrioventricular Septal Defect

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OMIM : 58 The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by Craig, 2006). AVSD, also designated endocardial cushion defect or atrioventricular canal defect (AVCD), is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. The 2 syndromes most frequently associated with AVSD are Down syndrome (190685), in which AVSD is the most frequent congenital heart defect, and Ivemark syndrome (208530) (summary by Carmi et al., 1992). (606215)

MalaCards based summary : Atrioventricular Septal Defect, also known as atrioventricular canal defect, is related to partial atrioventricular canal and ventricular septal defect 1. An important gene associated with Atrioventricular Septal Defect is SMARCAL1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A Like 1), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Cardiac Progenitor Differentiation. The drugs Sodium Citrate and Fentanyl have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and atrioventricular node, and related phenotypes are cellular and growth/size/body region

Disease Ontology : 12 A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.

Wikipedia : 77 Atrioventricular septal defect (AVSD) or atrioventricular canal defect (AVCD), also known as "common... more...

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Related Diseases for Atrioventricular Septal Defect

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Diseases in the Atrioventricular Septal Defect family:

Atrioventricular Septal Defect 3 Atrioventricular Septal Defect 2
Atrioventricular Septal Defect 4 Atrioventricular Septal Defect 5

Diseases related to Atrioventricular Septal Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 185)
# Related Disease Score Top Affiliating Genes
1 partial atrioventricular canal 33.3 CRELD1 GATA4 GATA6
2 ventricular septal defect 1 32.6 AVSD1 GATA4
3 complete atrioventricular canal-tetralogy of fallot syndrome 31.3 CRELD1 GATA4
4 complete atrioventricular canal-left heart obstruction syndrome 31.2 CRELD1 GATA4
5 complete atrioventricular canal-ventricle hypoplasia syndrome 31.1 CRELD1 GATA4 GATA6
6 transposition of the great arteries 30.6 GDF1 NKX2-5
7 atrioventricular block 30.6 GATA4 NKX2-5 TBX5
8 double outlet right ventricle 30.5 CRELD1 GATA4 GATA6 GDF1 NKX2-5
9 polydactyly, postaxial, type a1 30.5 EVC EVC2
10 hypoplastic left heart syndrome 1 30.3 FOXP1 GJA1
11 tricuspid atresia 30.3 CRELD1 GDF1
12 atrial heart septal defect 30.2 CRELD1 GATA4 GATA6 GDF1 NKX2-5 TBX5
13 ebstein anomaly 30.2 GATA4 GDF1 NKX2-5
14 tetralogy of fallot 30.2 CRELD1 EDN1 GATA4 GATA6 GDF1 GJA1
15 ventricular septal defect 30.1 EVC GATA4 GATA6 GDF1 NKX2-5 TBX5
16 patent ductus arteriosus 1 30.1 CRELD1 GATA4 GATA6 GDF1 NKX2-5
17 hypoplastic left heart syndrome 30.0 FOXP1 GJA1 NKX2-5
18 heart disease 28.9 CRELD1 EDN1 EVC EVC2 GATA4 GATA6
19 atrioventricular septal defect 2 12.8
20 atrioventricular septal defect 4 12.7
21 atrioventricular septal defect 5 12.7
22 atrioventricular septal defect 3 12.7
23 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy 12.4
24 atrioventricular septal defect with blepharophimosis and anal and radial defects 12.3
25 erdheim-chester disease 12.2
26 complete atrioventricular canal 11.8
27 ritscher-schinzel syndrome 1 11.7
28 atrial heart septal defect 7 11.5
29 right atrial isomerism 11.5
30 hemifacial atrophy, progressive 11.4
31 atrial septal defect 7 with or without atrioventricular conduction defects 11.3
32 split-hand/foot malformation 1 11.3
33 heterotaxy, visceral, 6, autosomal 11.3
34 chaotic atrial tachycardia 11.3
35 ellis-van creveld syndrome 11.3
36 atrial septal defect 2 11.3
37 chromosome 3pter-p25 deletion syndrome 11.3
38 8p23.1 duplication syndrome 11.3
39 chromosome 8p23.1 deletion 11.3
40 down syndrome 10.7
41 pulmonary hypertension 10.4
42 atrial septal defect ostium primum 10.4
43 cor triatriatum 10.4
44 chromosomal triplication 10.4
45 pulmonary valve stenosis 10.3 CRELD1 GATA4
46 pulmonic stenosis 10.3
47 third-degree atrioventricular block 10.3
48 weyers acrofacial dysostosis 10.3 EVC EVC2
49 single ventricular heart 10.3
50 heterotaxy 10.3

Graphical network of the top 20 diseases related to Atrioventricular Septal Defect:



Diseases related to Atrioventricular Septal Defect
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Symptoms & Phenotypes for Atrioventricular Septal Defect

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Clinical features from OMIM:

606215

MGI Mouse Phenotypes related to Atrioventricular Septal Defect:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.2 CRELD1 EVC EVC2 FMO5 GATA4 GATA6
2 growth/size/body region MP:0005378 10.18 EDN1 EVC EVC2 FMO5 GATA4 GATA6
3 cardiovascular system MP:0005385 10.13 CRELD1 EDN1 GATA4 GATA6 GDF1 GJA1
4 embryo MP:0005380 10.06 CRELD1 EDN1 GATA4 GATA6 GDF1 GJA1
5 mortality/aging MP:0010768 10.03 CRELD1 EDN1 EVC EVC2 GATA4 GATA6
6 craniofacial MP:0005382 9.98 CRELD1 EDN1 EVC EVC2 GDF1 GJA1
7 limbs/digits/tail MP:0005371 9.8 EVC EVC2 GATA4 GATA6 GJA1 TBX5
8 muscle MP:0005369 9.7 EDN1 GATA4 GATA6 GJA1 GJC1 NKX2-5
9 normal MP:0002873 9.56 EDN1 EVC2 GATA4 GATA6 GDF1 GJA1
10 skeleton MP:0005390 9.23 EDN1 EVC EVC2 GATA4 GDF1 GJA1
Sources

Drugs & Therapeutics for Atrioventricular Septal Defect

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Drugs for Atrioventricular Septal Defect (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium Citrate Approved, Investigational Phase 2 68-04-2
2
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 2 437-38-7 3345
3
Dexmedetomidine Approved, Vet_approved Phase 2 113775-47-6 5311068 68602
4
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
5
Citric Acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
6 Anesthetics, General Phase 2
7 Anticoagulants Phase 2
8 Adrenergic Agents Phase 2
9 Adrenergic alpha-Agonists Phase 2
10 Adrenergic Agonists Phase 2
11 Anesthetics Phase 2
12 Hypnotics and Sedatives Phase 2
13 Anesthetics, Intravenous Phase 2
14 Adjuvants, Anesthesia Phase 2
15 Neurotransmitter Agents Phase 2
16 Adrenergic alpha-2 Receptor Agonists Phase 2
17 Calcium, Dietary Phase 2
18 Analgesics, Opioid Phase 2
19 Narcotics Phase 2
20 Analgesics, Non-Narcotic Phase 2,Not Applicable
21 Central Nervous System Depressants Phase 2
22 Chelating Agents Phase 2
23 Peripheral Nervous System Agents Phase 2,Not Applicable
24 Citrate Phase 2
25 Analgesics Phase 2,Not Applicable
26 Plasma Substitutes Phase 2
27 Dextrans Phase 2
28 Blood Substitutes Phase 2
29 Pharmaceutical Solutions Phase 2
30
Nitric Oxide Approved Phase 1 10102-43-9 145068
31 carnitine Phase 1
32
Mechlorethamine Approved, Investigational 51-75-2 4033
33
Acetaminophen Approved Not Applicable 103-90-2 1983
34 Antipyretics Not Applicable

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Study of Triostat in Infants During Heart Surgery Completed NCT00027417 Phase 3 Liothyronine sodium/triiodothyronine
2 Intravenous L-Citrulline to Treat Children Undergoing Heart Bypass Surgery : Revised Protocol Completed NCT01120964 Phase 1, Phase 2 Intravenous L-Citrulline;Placebo of Intravenous L-Citrulline
3 Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left Ventricle Recruiting NCT03079401 Phase 1, Phase 2
4 Measures to Lower the Stress Response in Pediatric Cardiac Surgery Completed NCT00848393 Phase 2 Fentanyl (High Dose);Fentanyl (Low Dose);Fentanyl (Low Dose) + Dexmedetomidine
5 Hypertonic Saline Dextran in Pediatric Cardiac Surgery Completed NCT00199771 Phase 2 7.5% NaCl in 6% dextran 70 solution
6 Aberrations in Carnitine Homeostasis in Congenital Heart Disease With Increased Pulmonary Blood Flow Active, not recruiting NCT01825369 Phase 1 IV L-carnitine
7 National Congenital Heart Disease Audit Unknown status NCT02303535
8 Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease Completed NCT00005322
9 Infant Weight Gain With Trisomy 21 and CAVC Terminated NCT00327951
10 Optimal Timing for Repair of Left to Right Shunt Lesions Terminated NCT00229827
11 Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease Completed NCT00005546
12 Evolution of Two Cohorts of Children (Univentricular and Bi-ventricular Heart) After Strapping of the Pulmonary Artery Completed NCT03047343
13 Acetaminophen for Oxidative Stress After Cardiopulmonary Bypass Completed NCT01228305 Not Applicable

Search NIH Clinical Center for Atrioventricular Septal Defect

Cochrane evidence based reviews: endocardial cushion defects

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Genetic Tests for Atrioventricular Septal Defect

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Genetic tests related to Atrioventricular Septal Defect:

# Genetic test Affiliating Genes
1 Atrioventricular Septal Defect 30
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Anatomical Context for Atrioventricular Septal Defect

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MalaCards organs/tissues related to Atrioventricular Septal Defect:

42
Heart, Lung, Atrioventricular Node, Testes, Brain, Kidney, Adrenal Gland
Sources

Publications for Atrioventricular Septal Defect

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Articles related to Atrioventricular Septal Defect:

(show top 50) (show all 547)
# Title Authors Year
1
Long-term outcomes following partial atrioventricular septal defect (AVSD) repair in Ireland. ( 29943216 )
2019
2
Proximal Isovelocity Surface Area Method for Diagnosing Isolated Pulmonary Vein Stenosis in a Case of Complete Atrioventricular Septal Defect With Increased Pulmonary Venous Blood Flow. ( 30272591 )
2019
3
Edwards Sapien 3 transcatheter aortic valve implantation for management of severe aortic regurgitation in a teenage patient with corrected atrioventricular septal defect and progressive left ventricular dysfunction. ( 30461164 )
2019
4
Dysrhythmias in patients with a complete atrioventricular septal defect: From surgery to early adulthood. ( 30485659 )
2019
5
Complete Atrioventricular Septal Defect - Evolution of Results in a Single Center during 50 years. ( 30771324 )
2019
6
Added value of three-dimensional transthoracic echocardiography in assessment of an adult patient with atrioventricular septal defect. ( 30801807 )
2019
7
Double orifice and atrioventricular septal defect: dealing with the zone of apposition†. ( 30897200 )
2019
8
Case 2 / 2019 - Complete Atrioventricular Septal Defect, with Down Syndrome, without Pulmonary Hypertension and Natural History at 33 Years of Age. ( 30916196 )
2019
9
Comprehensive echocardiographic imaging of atrioventricular valves in children with atrioventricular septal defect: Accuracy of 2D and 3D imaging and reasons for disagreement. ( 30930449 )
2019
10
The Congenital Heart Surgeon's Society Complete Atrioventricular Septal Defect Cohort: Baseline, Preintervention Echocardiographic Characteristics. ( 29428621 )
2019
11
Rare Occurrence of Absent Pulmonary Valve Syndrome in the Setting of Double-Outlet Right Ventricle with Unbalanced Complete Atrioventricular Canal Defect. ( 31049480 )
2019
12
Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog. ( 29722020 )
2019
13
Preoperative Clinical and Echocardiographic Factors Associated with Surgical Timing and Outcomes in Primary Repair of Common Atrioventricular Canal Defect. ( 31065759 )
2019
14
A review of the Nunn modified single patch technique for atrioventricular septal defect repair. ( 29770291 )
2018
15
Surgery for partial atrioventricular septal defect with pulmonary hypertension in an adult dog. ( 29877312 )
2018
16
Large nonapical right ventricular diverticulum in a patient with atrioventricular septal defect. ( 29922027 )
2018
17
Reoperation for left atrioventricular valve failure in repaired atrioventricular septal defect: Can more valves be preserved in the current era? ( 29968369 )
2018
18
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect. ( 30007050 )
2018
19
Contemporary Outcomes After Repair of Isolated and Complex Complete Atrioventricular Septal Defect. ( 30009807 )
2018
20
Partial atrioventricular septal defect in infancy: don't we need to know more? ( 30104396 )
2018
21
Morphological Substrates for Atrial Arrhythmogenesis in a Heart With Atrioventricular Septal Defect. ( 30190677 )
2018
22
Long-term outcomes in patients who underwent surgical correction for atrioventricular septal defect. ( 30297581 )
2018
23
Totally Endoscopic Surgical Repair of Partial Atrioventricular Septal Defect in Children: Two Cases. ( 30394955 )
2018
24
Staged Repair of Truncus Arteriosus Associated with Complete Atrioventricular Septal Defect. ( 30402397 )
2018
25
Prenatal Atrioventricular Septal Defect (AVSD) as a planned congenital heart disease with different outcome depending on the presence of the coexisting extracardiac abnormalities (ECA) and / or malformations (ECM). ( 30514144 )
2018
26
Long-term results after surgical repair of atrioventricular septal defect. ( 30590597 )
2018
27
Correction: Partial atrioventricular septal defect in infancy: don't we need to know more? ( 30598458 )
2018
28
Novel Left Atrioventricular Valvuloplasty for Atrioventricular Septal Defect. ( 30617024 )
2018
29
One-stage definitive repair of complete atrioventricular septal defect and pulmonary atresia with major aortopulmonary collateral arteries. ( 29049668 )
2018
30
Influence of staged repair and primary repair on outcomes in patients with complete atrioventricular septal defect and tetralogy of Fallot: a systematic review and meta-analysis. ( 29049707 )
2018
31
Annuloplasty band implantation in adults with partial atrioventricular septal defect: a propensity-matched study. ( 29069357 )
2018
32
Propensity score matched analysis of partial atrioventricular septal defect repair in infancy. ( 29196540 )
2018
33
Incidence and risk factors of post-operative arrhythmias and sudden cardiac death after atrioventricular septal defect (AVSD) correction: Up to 47years of follow-up. ( 29249442 )
2018
34
Technical Performance Score Predicts Partial/Transitional Atrioventricular Septal Defect Outcomes. ( 29269131 )
2018
35
Symptomatic partial and transitional atrioventricular septal defect repaired in infancy. ( 29288192 )
2018
36
Coexistence of Right Ventricular Myxoma and Atrioventricular Septal Defect. ( 29310556 )
2018
37
Does biventricular conversion bring survival benefits to patients with an unbalanced atrioventricular septal defect? ( 29365065 )
2018
38
Late arrhytmias after repair of atrioventricular septal defect: Down's Syndrome is not the culprit. ( 29407082 )
2018
39
EDUCATIONAL SERIES IN CONGENITAL HEART DISEASE: Echocardiographic assessment of left to right shunts: atrial septal defect, ventricular septal defect, atrioventricular septal defect, patent arterial duct. ( 29432197 )
2018
40
Sequential Melody Valve Insertion After Repair of Tetralogy of Fallot Atrioventricular Septal Defect. ( 29455823 )
2018
41
Clinical, echocardiographic and analytical parameters in patients with atrioventricular septal defect with and without Down syndrome. ( 29503025 )
2018
42
Identifying Patients with Atrioventricular Septal Defect in Down Syndrome Populations by Using Self-Normalizing Neural Networks and Feature Selection. ( 29649131 )
2018
43
Unilateral lung agenesis, hiatal hernia and atrioventricular septal defect: a rare combination of congenital anomalies. ( 29754141 )
2018
44
Complete Atrioventricular Canal Defect: Towards a More Physiological Repair. ( 28705664 )
2018
45
The comparative relationships between locations of the papillary muscles and electrophysiologic QRS axis in patients with atrioventricular septal defect and common as opposed to separate orifices in the valve guarding the common atrioventricular junction. ( 27087659 )
2017
46
Long-Term Outcome of Patients With Complete Atrioventricular Septal Defect Combined With the Tetralogy of Fallot: Staged Repair Is Not Inferior to Primary Repair. ( 27692233 )
2017
47
Early pulmonary arterial hypertension immediately after closure of a ventricular or complete atrioventricular septal defect beyond 6months of age. ( 27866021 )
2017
48
Right-Dominant Unbalanced Atrioventricular Septal Defect: Echocardiography in Surgical Decision Making. ( 27939051 )
2017
49
Prophylactic Pulmonary Artery Reduction in a Young Female with Severe Pulmonary Hypertension from Complete Atrioventricular Septal Defect. ( 28154602 )
2017
50
Repair of complete atrioventricular septal defect with tetralogy of Fallot. ( 28164023 )
2017
Sources

Variations for Atrioventricular Septal Defect

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ClinVar genetic disease variations for Atrioventricular Septal Defect:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SMARCAL1 NM_014140.3(SMARCAL1): c.2542G> T (p.Glu848Ter) single nucleotide variant Pathogenic rs119473033 GRCh37 Chromosome 2, 217342939: 217342939
2 SMARCAL1 NM_014140.3(SMARCAL1): c.2542G> T (p.Glu848Ter) single nucleotide variant Pathogenic rs119473033 GRCh38 Chromosome 2, 216478216: 216478216
3 FOXP1 NM_032682.5(FOXP1): c.1702C> T (p.Pro568Ser) single nucleotide variant Benign/Likely benign, association rs147674680 GRCh37 Chromosome 3, 71019907: 71019907
4 FOXP1 NM_032682.5(FOXP1): c.1702C> T (p.Pro568Ser) single nucleotide variant Benign/Likely benign, association rs147674680 GRCh38 Chromosome 3, 70970756: 70970756
5 SMARCAL1 NM_001127207.1(SMARCAL1): c.723C> A (p.Cys241Ter) single nucleotide variant Pathogenic rs748106387 GRCh38 Chromosome 2, 216415427: 216415427
6 SMARCAL1 NM_001127207.1(SMARCAL1): c.723C> A (p.Cys241Ter) single nucleotide variant Pathogenic rs748106387 GRCh37 Chromosome 2, 217280150: 217280150
7 TBX5 NM_000192.3(TBX5): c.404T> G (p.Leu135Arg) single nucleotide variant Likely pathogenic rs1057519050 GRCh37 Chromosome 12, 114836484: 114836484
8 TBX5 NM_000192.3(TBX5): c.404T> G (p.Leu135Arg) single nucleotide variant Likely pathogenic rs1057519050 GRCh38 Chromosome 12, 114398679: 114398679
Sources

Expression for Atrioventricular Septal Defect

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Search GEO for disease gene expression data for Atrioventricular Septal Defect.
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Pathways for Atrioventricular Septal Defect

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Pathways related to Atrioventricular Septal Defect according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 66
11.38 GATA4 GJA1 NKX2-5 TBX5
2
Cardiac Progenitor Differentiation 1
11.06 GATA4 NKX2-5 TBX5
3
Physiological and Pathological Hypertrophy of the Heart 1
10.77 EDN1 GATA4
4
Cardiomyocyte Differentiation through BMP Receptors 65
10.66 GATA4 NKX2-5
5
Heart Development 1
10.59 GATA4 GATA6 NKX2-5 TBX5
6
HOP Signaling 65
10.03 GATA4 NKX2-5
Sources

GO Terms for Atrioventricular Septal Defect

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Cellular components related to Atrioventricular Septal Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 connexin complex GO:0005922 8.96 GJA1 GJC1
2 plasma membrane protein complex GO:0098797 8.62 EVC EVC2

Biological processes related to Atrioventricular Septal Defect according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.83 EDN1 GATA4 GJA1 GJC1 TBX5
2 heart looping GO:0001947 9.65 GATA4 GJA1 NKX2-5
3 blood vessel morphogenesis GO:0048514 9.58 EDN1 GJA1
4 outflow tract septum morphogenesis GO:0003148 9.58 GATA6 NKX2-5
5 cardiac muscle tissue development GO:0048738 9.58 GATA6 GJC1 NKX2-5
6 negative regulation of cardiac muscle cell proliferation GO:0060044 9.57 GJA1 TBX5
7 embryonic heart tube development GO:0035050 9.56 GJA1 NKX2-5
8 adult heart development GO:0007512 9.55 GJA1 NKX2-5
9 cardiac ventricle morphogenesis GO:0003208 9.54 GATA4 NKX2-5
10 atrial septum morphogenesis GO:0060413 9.54 GATA4 NKX2-5 TBX5
11 atrial cardiac muscle cell action potential GO:0086014 9.52 GJA1 GJC1
12 gap junction assembly GO:0016264 9.51 GJA1 GJC1
13 endocardial cushion development GO:0003197 9.5 CRELD1 GATA4 TBX5
14 intestinal epithelial cell differentiation GO:0060575 9.49 GATA4 GATA6
15 bundle of His development GO:0003166 9.46 NKX2-5 TBX5
16 cardiac muscle cell differentiation GO:0055007 9.46 GATA4 GATA6 NKX2-5 TBX5
17 heart development GO:0007507 9.35 EDN1 GJA1 GJC1 NKX2-5 TBX5
18 cell development GO:0048468 9.26 GDF1 GJC1
19 positive regulation of cardioblast differentiation GO:0051891 8.92 GATA4 GATA6 NKX2-5 TBX5

Molecular functions related to Atrioventricular Septal Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.46 GATA4 GATA6 NKX2-5 TBX5
2 sequence-specific DNA binding GO:0043565 9.35 FOXP1 GATA4 GATA6 NKX2-5 TBX5
3 enhancer sequence-specific DNA binding GO:0001158 8.96 GATA4
4 gap junction channel activity GO:0005243 8.62 GJA1 GJC1
Sources

Sources for Atrioventricular Septal Defect

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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